Neuropsychological profile in adults with neurofibromatosis type 1 compared to a control group

Background: Neurofibromatosis type 1 (NF1) is a common inherited autosomal dominant condition, characterised by multiple café-au-lait macules, axillary and/or inguinal freckling, iris Lisch nodules and tumours of the nervous system such as neurofibromas and optic pathway gliomas. At the same time, NF1 is frequently associated with intellectual disabilities across several neuropsychological domains. Existing neuropsychological data in NF1 adults are limited and sometimes contradictory. Moreover, most studies use a non-IQ-controlled norm group for comparison. This study sought to investigate specific neuropsychological characteristics in intellectual abilities unrelated to the global intellectual capacity.

Method: Twenty NF1 adults and an IQ-, age- and gender-matched control group completed a comprehensive neuropsychological test battery composed of specific cognitive tests investigating visual-spatial abilities and memory, auditory memory, selective and sustained attention and executive functioning. A short version of the Wechsler Adult Intelligence Scale - III was also administered to both groups.

Results: Norm comparison showed that both groups perform poorly on most neuropsychological functions, except for sustained attention. However, comparison with the IQ-matched control group showed significantly lower scores on visual-spatial abilities and memory, on auditory working memory and on tests for cognitive flexibility in NF1 adults. Nevertheless, as the significant difference in average estimated IQ score between the NF1 group and the selected control group almost reaches the 5% significance level, further analysis is needed to include IQ as a covariate. Eventually, problems in visual-spatial skills and auditory long-term memory seem to be specific NF1-related deficits, while problems in attention and executive functioning are particularly related to their general lowered intellectual abilities.

Conclusion: Taking into account that primary visual perception problems could be part of a more general central coherence deficit while interpreting auditory memory problems as possibly related to deficits in language use and comprehension, this idea also fits with the observation of several problems in social information processing and functioning of NF1 persons.